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[弥漫性大B细胞淋巴瘤中伴有MYC和BCL2及/或BCL6重排的高级别B细胞淋巴瘤的发病率]

[The incidence of high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements in diffuse large B-cell lymphoma].

作者信息

Li M, Zhang Q L, Zhao W, Huang X, Gong L P, Shi Q F, Liu C L, Gao Z F

机构信息

Department of Pathology, Third Hospital, School of Basic Medical Sciences, Peking University, Beijing 100191, China.

West China School of Medicine, Sichuan University, Chengdu 610041, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2021 Feb 14;42(2):124-128. doi: 10.3760/cma.j.issn.0253-2727.2021.02.006.

Abstract

To investigate the incidence of high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangement in Chinese diffuse large B-cell lymphoma (DLBCL) . From January 2013 to August 2020, 922 DLBCL cases were collected. C-MYC and BCL2 protein expression levels were analyzed by immunohistochemistry staining. Fluorescence in situ hybridization was used to detect the structural abnormalities of MYC, BCL2, and BCL6, including gene breaks and copy number changes. MYC and BCL2 and/or BCL6 gene breaks were found in 29 out of 922 DLBCL cases (3.15%) , including 25 cases of double-hit lymphoma (DHL; 14 cases involving MYC and BCL2 rearrangements and 11 cases involving MYC and BCL6 rearrangements) and four cases involving MYC, BCL2, and BCL6 rearrangements, referring to triple-hit lymphoma. According to the threshold of C-MYC ≥40% and BCL2 ≥50%, 541 cases (58.68%) overexpressed C-MYC and BCL2 proteins, including 22 DHL cases. Moreover, according to the threshold of C-MYC ≥70% and BCL2 ≥50%, 52 cases (5.64%) overexpressed C-MYC and BCL2 proteins, including nine DHL cases. The P53 protein expression was detected by immunohistochemistry staining. The mutant P53 expression pattern was shown in 101 out of 709 cases (14.25%) , whereas 13 cases (1.83%) were negative, likely indicating P53 gene fragment deletion. The incidence of high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements was low in DLBCLs, and no significant correlation between gene abnormality and protein overexpression was shown. The correct diagnosis of DHL depends on molecular genetic detection.

摘要

探讨中国弥漫性大B细胞淋巴瘤(DLBCL)中伴有MYC和BCL2及/或BCL6重排的高级别B细胞淋巴瘤的发病率。2013年1月至2020年8月,收集了922例DLBCL病例。采用免疫组织化学染色分析C-MYC和BCL2蛋白表达水平。采用荧光原位杂交检测MYC、BCL2和BCL6的结构异常,包括基因断裂和拷贝数变化。922例DLBCL病例中有29例(3.15%)发现MYC和BCL2及/或BCL6基因断裂,其中25例为双打击淋巴瘤(DHL;14例涉及MYC和BCL2重排,11例涉及MYC和BCL6重排),4例涉及MYC、BCL2和BCL6重排,即三打击淋巴瘤。根据C-MYC≥40%和BCL2≥50%的阈值,541例(58.68%)C-MYC和BCL2蛋白过表达,其中包括22例DHL病例。此外,根据C-MYC≥70%和BCL2≥50%的阈值,52例(5.64%)C-MYC和BCL2蛋白过表达,其中包括9例DHL病例。采用免疫组织化学染色检测P53蛋白表达。709例中有101例(14.25%)呈现突变型P53表达模式,而13例(1.83%)为阴性,可能提示P53基因片段缺失。DLBCL中伴有MYC和BCL2及/或BCL6重排的高级别B细胞淋巴瘤发病率较低,且未显示基因异常与蛋白过表达之间存在显著相关性。DHL的正确诊断依赖于分子遗传学检测。

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